Incidental Mutation 'R5330:Kank1'
ID 423196
Institutional Source Beutler Lab
Gene Symbol Kank1
Ensembl Gene ENSMUSG00000032702
Gene Name KN motif and ankyrin repeat domains 1
Synonyms Ankrd15, D330024H06Rik, A930031B09Rik
MMRRC Submission 042912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5330 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 25214339-25411860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25388693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 789 (T789A)
Ref Sequence ENSEMBL: ENSMUSP00000116660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]
AlphaFold E9Q238
Predicted Effect probably damaging
Transcript: ENSMUST00000049400
AA Change: T761A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: T761A

DomainStartEndE-ValueType
Pfam:KN_motif 30 68 3.3e-24 PFAM
low complexity region 88 105 N/A INTRINSIC
low complexity region 138 148 N/A INTRINSIC
coiled coil region 286 314 N/A INTRINSIC
low complexity region 350 358 N/A INTRINSIC
coiled coil region 362 395 N/A INTRINSIC
coiled coil region 451 494 N/A INTRINSIC
low complexity region 541 556 N/A INTRINSIC
low complexity region 617 629 N/A INTRINSIC
Blast:ANK 963 993 7e-10 BLAST
low complexity region 1010 1030 N/A INTRINSIC
low complexity region 1074 1095 N/A INTRINSIC
ANK 1169 1199 3.71e-4 SMART
ANK 1203 1236 2.27e1 SMART
ANK 1241 1270 1.33e-5 SMART
ANK 1274 1306 5.84e-2 SMART
ANK 1308 1336 4.86e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137260
Predicted Effect probably damaging
Transcript: ENSMUST00000146647
AA Change: T789A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: T789A

DomainStartEndE-ValueType
Pfam:KN_motif 58 96 2e-25 PFAM
low complexity region 116 133 N/A INTRINSIC
low complexity region 166 176 N/A INTRINSIC
coiled coil region 314 342 N/A INTRINSIC
low complexity region 378 386 N/A INTRINSIC
coiled coil region 390 423 N/A INTRINSIC
internal_repeat_1 430 479 3.72e-5 PROSPERO
low complexity region 569 584 N/A INTRINSIC
internal_repeat_1 587 636 3.72e-5 PROSPERO
low complexity region 645 657 N/A INTRINSIC
Blast:ANK 991 1021 4e-10 BLAST
low complexity region 1038 1058 N/A INTRINSIC
low complexity region 1102 1123 N/A INTRINSIC
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (95/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2m A G 6: 121,615,375 (GRCm39) D83G probably benign Het
Abca16 T A 7: 120,102,600 (GRCm39) I833N probably benign Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Aktip A T 8: 91,853,352 (GRCm39) F122I probably damaging Het
Ankrd27 T A 7: 35,315,351 (GRCm39) L500* probably null Het
Blm T C 7: 80,108,684 (GRCm39) E55G possibly damaging Het
Carmil1 A T 13: 24,209,929 (GRCm39) probably null Het
Cdca7 T C 2: 72,315,042 (GRCm39) C311R probably damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctnnd2 C T 15: 30,332,261 (GRCm39) T48I probably damaging Het
Cyp2b10 T A 7: 25,613,414 (GRCm39) Y203* probably null Het
Dchs1 A T 7: 105,403,809 (GRCm39) V2911E probably damaging Het
Dnah12 G A 14: 26,495,787 (GRCm39) E1472K probably damaging Het
Dnah3 T C 7: 119,542,871 (GRCm39) T3514A probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gabrr2 A G 4: 33,082,583 (GRCm39) K236E possibly damaging Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm10313 T A 8: 46,708,490 (GRCm39) noncoding transcript Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hivep2 A G 10: 14,007,164 (GRCm39) K1254R probably damaging Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Lct A T 1: 128,226,266 (GRCm39) D1374E probably benign Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mark4 G A 7: 19,170,908 (GRCm39) P321S probably damaging Het
Med18 A G 4: 132,190,377 (GRCm39) probably benign Het
Mia2 A G 12: 59,142,598 (GRCm39) S5G probably benign Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nob1 T G 8: 108,142,881 (GRCm39) T267P probably damaging Het
Nos3 A G 5: 24,574,902 (GRCm39) E307G probably damaging Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Pcdh17 T A 14: 84,770,486 (GRCm39) V988E probably damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Phlpp2 A G 8: 110,660,667 (GRCm39) D774G probably damaging Het
Pibf1 T C 14: 99,378,082 (GRCm39) Y403H probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Ptprk A T 10: 28,463,076 (GRCm39) D189V probably damaging Het
Relb C T 7: 19,340,630 (GRCm39) G509S possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Sel1l3 A T 5: 53,343,351 (GRCm39) Y314N possibly damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc22a27 A G 19: 7,856,820 (GRCm39) I406T probably benign Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Snta1 C A 2: 154,219,940 (GRCm39) E403* probably null Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Spata31d1a A T 13: 59,848,217 (GRCm39) C1304S possibly damaging Het
Srebf2 T A 15: 82,080,409 (GRCm39) I834N possibly damaging Het
Steap1 G T 5: 5,790,422 (GRCm39) H175Q probably damaging Het
Sult2a8 T C 7: 14,147,679 (GRCm39) E204G possibly damaging Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tecta A C 9: 42,249,152 (GRCm39) D1903E probably damaging Het
Tmem222 A C 4: 133,004,935 (GRCm39) M34R possibly damaging Het
Tnik A G 3: 28,596,167 (GRCm39) T187A probably damaging Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ttll13 T C 7: 79,910,257 (GRCm39) V800A probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Vmn2r58 G A 7: 41,513,384 (GRCm39) Q420* probably null Het
Zranb3 G A 1: 127,887,457 (GRCm39) P990L probably damaging Het
Zswim9 T A 7: 12,993,912 (GRCm39) D748V probably damaging Het
Other mutations in Kank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Kank1 APN 19 25,389,122 (GRCm39) missense probably benign
IGL00435:Kank1 APN 19 25,407,600 (GRCm39) missense probably benign 0.41
IGL01105:Kank1 APN 19 25,401,680 (GRCm39) missense possibly damaging 0.80
IGL01974:Kank1 APN 19 25,387,596 (GRCm39) missense possibly damaging 0.87
IGL02031:Kank1 APN 19 25,388,066 (GRCm39) missense probably benign 0.01
IGL02125:Kank1 APN 19 25,388,067 (GRCm39) missense possibly damaging 0.90
IGL02152:Kank1 APN 19 25,405,536 (GRCm39) missense possibly damaging 0.51
IGL02211:Kank1 APN 19 25,407,702 (GRCm39) missense probably damaging 1.00
IGL02440:Kank1 APN 19 25,410,272 (GRCm39) missense probably damaging 1.00
IGL02448:Kank1 APN 19 25,388,739 (GRCm39) missense probably damaging 1.00
IGL02671:Kank1 APN 19 25,405,459 (GRCm39) missense probably damaging 1.00
IGL03102:Kank1 APN 19 25,403,282 (GRCm39) missense probably damaging 1.00
IGL03259:Kank1 APN 19 25,407,705 (GRCm39) missense probably damaging 1.00
IGL02802:Kank1 UTSW 19 25,388,963 (GRCm39) missense probably damaging 1.00
R0107:Kank1 UTSW 19 25,407,730 (GRCm39) unclassified probably benign
R0190:Kank1 UTSW 19 25,386,647 (GRCm39) missense probably benign 0.00
R0330:Kank1 UTSW 19 25,401,677 (GRCm39) missense probably benign 0.00
R0368:Kank1 UTSW 19 25,387,967 (GRCm39) nonsense probably null
R0399:Kank1 UTSW 19 25,388,606 (GRCm39) missense probably benign 0.00
R0426:Kank1 UTSW 19 25,388,837 (GRCm39) missense probably damaging 1.00
R0483:Kank1 UTSW 19 25,403,357 (GRCm39) unclassified probably benign
R1394:Kank1 UTSW 19 25,405,528 (GRCm39) missense probably damaging 1.00
R1495:Kank1 UTSW 19 25,387,713 (GRCm39) missense probably damaging 0.98
R1681:Kank1 UTSW 19 25,387,668 (GRCm39) missense possibly damaging 0.89
R1698:Kank1 UTSW 19 25,388,681 (GRCm39) missense probably benign 0.11
R1830:Kank1 UTSW 19 25,388,396 (GRCm39) missense probably benign 0.00
R1866:Kank1 UTSW 19 25,388,813 (GRCm39) missense probably benign 0.04
R2138:Kank1 UTSW 19 25,389,117 (GRCm39) missense probably benign 0.00
R2139:Kank1 UTSW 19 25,389,117 (GRCm39) missense probably benign 0.00
R2420:Kank1 UTSW 19 25,387,821 (GRCm39) missense probably damaging 1.00
R3153:Kank1 UTSW 19 25,388,052 (GRCm39) missense possibly damaging 0.89
R4164:Kank1 UTSW 19 25,388,436 (GRCm39) missense probably benign 0.10
R4670:Kank1 UTSW 19 25,387,944 (GRCm39) missense probably benign 0.00
R4685:Kank1 UTSW 19 25,387,398 (GRCm39) missense possibly damaging 0.66
R4843:Kank1 UTSW 19 25,408,371 (GRCm39) missense probably damaging 1.00
R4981:Kank1 UTSW 19 25,388,759 (GRCm39) missense probably benign 0.19
R5189:Kank1 UTSW 19 25,401,545 (GRCm39) missense probably damaging 1.00
R5280:Kank1 UTSW 19 25,388,669 (GRCm39) missense probably benign 0.01
R5331:Kank1 UTSW 19 25,388,693 (GRCm39) missense probably damaging 1.00
R5435:Kank1 UTSW 19 25,388,507 (GRCm39) missense probably benign 0.04
R5500:Kank1 UTSW 19 25,401,696 (GRCm39) missense possibly damaging 0.46
R5894:Kank1 UTSW 19 25,401,564 (GRCm39) missense probably damaging 1.00
R6087:Kank1 UTSW 19 25,387,088 (GRCm39) missense probably benign 0.41
R6357:Kank1 UTSW 19 25,388,717 (GRCm39) missense probably benign 0.36
R6490:Kank1 UTSW 19 25,387,449 (GRCm39) missense probably damaging 1.00
R6504:Kank1 UTSW 19 25,405,518 (GRCm39) missense probably damaging 1.00
R6942:Kank1 UTSW 19 25,401,537 (GRCm39) missense possibly damaging 0.88
R7037:Kank1 UTSW 19 25,407,705 (GRCm39) missense probably damaging 1.00
R7405:Kank1 UTSW 19 25,387,683 (GRCm39) nonsense probably null
R7486:Kank1 UTSW 19 25,388,193 (GRCm39) missense probably damaging 0.99
R7602:Kank1 UTSW 19 25,399,525 (GRCm39) missense probably benign 0.01
R7701:Kank1 UTSW 19 25,389,129 (GRCm39) critical splice donor site probably null
R7765:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R7766:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R7768:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R7919:Kank1 UTSW 19 25,408,439 (GRCm39) missense probably damaging 1.00
R7974:Kank1 UTSW 19 25,401,584 (GRCm39) missense probably damaging 1.00
R7978:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R8017:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R8017:Kank1 UTSW 19 25,388,568 (GRCm39) frame shift probably null
R8020:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R8150:Kank1 UTSW 19 25,388,163 (GRCm39) missense possibly damaging 0.88
R8322:Kank1 UTSW 19 25,355,842 (GRCm39) start gained probably benign
R8374:Kank1 UTSW 19 25,389,005 (GRCm39) missense probably damaging 0.97
R8705:Kank1 UTSW 19 25,388,907 (GRCm39) missense probably damaging 1.00
R8855:Kank1 UTSW 19 25,388,702 (GRCm39) missense possibly damaging 0.87
R8866:Kank1 UTSW 19 25,388,702 (GRCm39) missense possibly damaging 0.87
R8891:Kank1 UTSW 19 25,387,439 (GRCm39) missense probably benign 0.32
R8894:Kank1 UTSW 19 25,408,378 (GRCm39) missense probably damaging 1.00
R8917:Kank1 UTSW 19 25,386,928 (GRCm39) missense probably damaging 0.99
R9217:Kank1 UTSW 19 25,386,944 (GRCm39) missense possibly damaging 0.92
R9301:Kank1 UTSW 19 25,388,798 (GRCm39) missense probably benign 0.00
R9431:Kank1 UTSW 19 25,387,866 (GRCm39) missense probably damaging 1.00
R9603:Kank1 UTSW 19 25,408,289 (GRCm39) missense possibly damaging 0.95
R9680:Kank1 UTSW 19 25,388,138 (GRCm39) missense probably damaging 1.00
R9746:Kank1 UTSW 19 25,386,872 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTCTCCTCAGCACTATGG -3'
(R):5'- GCGCTCAATGTAGTGATCCAAG -3'

Sequencing Primer
(F):5'- TCTCCTCAGCACTATGGACAAG -3'
(R):5'- ATGTAGTGATCCAAGCCAGTC -3'
Posted On 2016-08-04